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目的比较串联质谱(tandem mass spectrometry,TMS)技术与茚三酮荧光法在苯丙酮尿症(phenyl ketonuria,PKU)筛查中的准确性。方法采用茚三酮荧光法对166 247例PKU标本进行初筛,初查阳性标本均采用茚三酮荧光法和串联质谱技术复查,复查阳性者召回采血后统一再用上述两种方法进行检测,通过卡方检验统计比较两种方法的复查阳性率,探讨这两种方法在苯丙酮尿症筛查中的应用。根据血中Phe浓度进行鉴别诊断。结果 (1)166 247例新生儿初查阳性1152例,初查阳性率为6.93‰;(2)茚三酮荧光法和TMS技术的复查阳性率分别为14.58%、3.91%,两种方法比较具有统计学意义(P<0.05);(3)复查阳性者召回采血后统一再用上述两种方法进行检测,均确诊HPA 3例,发病率为1∶55415,其中经典型PKU 2例,高苯丙氨酸血症1例。结论 TMS技术能更快速、更准确地监测血苯丙氨酸水平,更适合用于PKU筛查,可有效地开展筛查的阳性召回工作及缓解家庭的精神压力。
Objective To compare the accuracy of tandem mass spectrometry (TMS) and ninhydrin fluorescence in the screening of phenylketonuria (PKU). Methods Ninhydrin fluorescence method was used to screen 166 247 cases of PKU specimens. The positive specimens were examined by ninhydrin fluorescence and tandem mass spectrometry. The positive samples were collected and recalled. The two methods were used to detect the positive samples. The positive rates of the two methods were compared by chi-square test, and the application of these two methods in the screening of phenylketonuria was discussed. According to the blood Phe concentration differential diagnosis. Results (1) There were 1152 newly diagnosed cases of neonates in 1667 cases, the positive rate of primary examination was 6.93 ‰. (2) The positive rates of ninhydrin fluorescence and TMS were 14.58% and 3.91%, respectively. (P <0.05). (3) In the positive cases of recalled positive blood samples, the above two methods were used to detect the positive blood samples, and 3 cases of HPA were diagnosed with the incidence of 1: 55415, of which 2 cases of classical PKU were high Phenylalaninemia in 1 case. Conclusion The TMS technique can monitor the level of plasma phenylalanine more rapidly and accurately and is more suitable for PKU screening. It can effectively carry out the positive recall of screening and relieve the mental stress of the family.